Linked Data
ClinVar Variation Id:
1126007
ClinVar RCV Id:
RCV001457926
dbSNP Id:
rs1419893626
gnomAD v2:
21-45196112-G-C
gnomAD v4:
21-43776231-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43776231G>C , CM000683.2:g.43776231G>C | GRCh38 |
| NC_000021.8:g.45196112G>C , CM000683.1:g.45196112G>C | GRCh37 |
| NC_000021.7:g.44020540G>C | NCBI36 |
| NG_011545.1:g.5148C>G , LRG_485:g.5148C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291568.7:c.39C>G MANE Select | ENSP00000291568.6:p.Thr13= | |
| ENST00000480147.3:n.38C>G | ||
| ENST00000639959.1:c.8C>G | ||
| ENST00000640406.1:c.39C>G | ENSP00000492672.1:p.Thr13= | |
| ENST00000675996.1:n.100C>G | ||
| ENST00000291568.5:c.39C>G | ENSP00000291568.5:p.Thr13= | |
| ENST00000480147.1:n.76C>G | ||
| NM_000100.3:c.39C>G , LRG_485t1:c.39C>G | NP_000091.1:p.Thr13= | |
| NM_000100.4:c.39C>G MANE Select | NP_000091.1:p.Thr13= |